Pulmonology Book

http://www.fpnotebook.com/

Cystic FibrosisAka: Mucoviscidosis, Fibrocystic disease of pancreas

Advertisement

  1. See Also
    1. Cystic Fibrosis in Pregnancy
  2. Epidemiology
    1. Usually diagnosed in childhood
    2. Incidence in live births
      1. Caucasian: 1:1500 to 1:2000
      2. Black: 1:17000
      3. Asian: 1:90000
    3. Carrier rate: 4-5% of Caucasian population
  3. Pathophysiology
    1. Autosomal recessive trait
    2. Exocrine gland disorder produces mucus blockage
      1. Blocks fine tubules in various organs
  4. Symptoms
    1. Respiratory
      1. Chronic Cough
        1. Productive of tenacious Sputum
      2. Wheezing
      3. Hemoptysis
    2. Gastrointestinal
      1. Voracious appetite
      2. Chronic Diarrhea
      3. Bulky malodorous stools
      4. Prolonged Neonatal Jaundice
    3. Other
      1. Excessive sweating
      2. Positive Family History
  5. Signs
    1. Digital Clubbing
  6. Complications
    1. Respiratory
      1. Recurrent Pneumonia
      2. Chronic Bronchitis
      3. Pansinusitis
      4. Nasal Polyps
      5. Bronchiectasis
      6. Pseudomonas colonization of respiratory tract
    2. Gastrointestinal
      1. Meconium ileus
      2. Fecal Impaction
      3. Intussusception
      4. Volvulus
      5. Failure to Thrive
      6. Rectal prolapse
    3. Other
      1. Cardiomegaly
      2. Diabetes Mellitus
      3. Metabolic abnormalities
        1. Hyponatremic dehydration
        2. Chronic Metabolic Alkalosis
      4. Infertility in males (azoospermia)
  7. Labs
    1. Sweat Test
    2. Delta F508
    3. Agar Plate hand test
      1. White palmar implant from Sweat Chloride
    4. Starch tolerance test
      1. Pancreatic Insufficiency
    5. Electrolytes
      1. Sodium and chloride normal
  8. Radiology
    1. Abdominal XRay (KUB)
      1. Dilated loops of small bowel
  9. Management: Airway management
    1. Airway clearance
      1. Percussion and postural drainage
      2. Active cycle breathing
      3. Positive expiratory pressure mask
      4. Autogenic drainage
      5. Flutter valve
      6. Pneumatic vest
    2. Mucus thinning drugs
      1. Pulmozyme 2.5 mg nebulized qd
      2. Efficacy maintained for up to 1 year of treatment
      3. Reduces rate of respiratory infection
      4. Improves pulmonary function
    3. Antibiotics: Nebulized Tobramycin
      1. Traditional Tobramycin
        1. Dose: 80 mg/2cc nebulized TID
      2. TOBI
        1. Dose: 300 mg/5cc nebulized bid via Pari LC Plus
        2. Cost: $2000/28 day supply
  10. Management: Nutritional supplements
    1. Daytime
      1. Scandibar 350 cals/bar
      2. Scandishake 600 cals/8 oz (with WCM)
      3. Calories Plus 450 cals/8 oz (with water)
      4. Carnation Instant Breakfast 290 Cals/8 oz
    2. Nighttime drip
      1. Tolerex 1.0 cal/cc
      2. Vital 1.0 cal/cc
      3. Peptamen 1.0 cal/cc
      4. Criticare 1.0 cal/cc
  11. Management: Other
    1. Growth Hormone
      1. Improved growth velocity improves pulmonary function
      2. Results in reduced hospitalization rates
      3. Hardin (2006) J Clin Endocrinol Metab 91:4925
    2. Lung Transplantation
      1. See Lung Transplantation in Cystic Fibrosis
  12. Management: Hospitalization Indications
    1. Increased cough
    2. Increased Sputum production or color change
    3. Anorexia and weight loss
    4. Exercise intolerance
    5. Malaise or irritability
    6. Decline in pulmonary function or CXR change
  13. References
    1. Acherman (1998) PREP Course, Phoenix
    2. Wallace (1993) Clin Pharm 12:657

Cystic Fibrosis (C0010674)

Definition (MSH)An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Definition (CSP)most common potentially lethal autosomal recessive disease affecting Caucasians; characterized by chronic pulmonary, intestinal, liver, pancreatic, and exocrine gland dysfunction; caused by mutations of the CFTR chloride channel.
Definition (NCI)A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling.
Definition (NCI)A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003
ConceptsDisease or Syndrome (T047)
ICD9277.0, 277.00
EnglishCF, Cystic Fibrosis, Fibrocystic disease, Mucoviscidosis
Spanishenfermedad fibroquística, enfermedad fibroquistica, fibrosis quística, fibrosis quistica, FQ, mucoviscidosis
CreditsDerived from the NIH UMLS (Unified Medical Language System)



Navigation Tree